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A tapetal-like fundus reflex in a healthy male: evidence against a role in the pathophysiology of retinal degeneration?

Schatz P, Bregnhøj J, Arvidsson H, Sharon D, Mizrahi-Meissonnier L, Sander B, Grønskov K, Larsen M - Mol. Vis. (2012)

Bottom Line: Imaging studies and electrophysiological testing was unremarkable, except for a significant increase in full-field ERG amplitudes after prolonged dark adaptation as compared to after standard dark adaptation.Mutation screening was negative.TLR was found for the first time, to the best of our knowledge, in a male subject.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Glostrup Hospital, University of Copenhagen, Denmark. patrik.schatz@med.lu.se

ABSTRACT

Purpose: To report on the retinal function and structure in a 37-year-old male who presented with a tapetal-like reflex (TLR) indistinguishable from that seen in female carriers of X-linked retinitis pigmentosa (XLRP).

Methods: Clinical examination included dark adaptometry, full-field electroretinography (ERG), multifocal ERG, optical coherence tomography, and fundus autofluorescence photography. Molecular genetic testing included screening for known mutations in autosomal dominant, autosomal recessive, and X linked retinitis pigmentosa (RP) genes with a commercially available chip, and sequencing analysis of retinitis pigmentosa GTPase regulator (RPGR)-open reading frame 15 (ORF15).

Results: Fundus examination revealed a bilateral TLR, which is typical of female carriers of XLRP. Imaging studies and electrophysiological testing was unremarkable, except for a significant increase in full-field ERG amplitudes after prolonged dark adaptation as compared to after standard dark adaptation. Mutation screening was negative.

Conclusions: TLR was found for the first time, to the best of our knowledge, in a male subject. There were no definitive signs of retinal degeneration, suggesting that this reflex in itself is not necessarily a precursor of the retinal degeneration that can be seen in female carriers of XLRP.

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Fundus photography (left panel) and optical coherence tomography (right panel) in a 33-year-old female carrier of X-linked retinitis pigmentosa with a known c.854G>A mutation in RPGR, demonstrating no obvious retinal structural abnormalities and no tapetal-like reflex.
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f6: Fundus photography (left panel) and optical coherence tomography (right panel) in a 33-year-old female carrier of X-linked retinitis pigmentosa with a known c.854G>A mutation in RPGR, demonstrating no obvious retinal structural abnormalities and no tapetal-like reflex.

Mentions: A 33-year-old female carrier with c.854G>A, a known mutation in RPGR [18], but in whom no TLR was present, was investigated. The fundus and OCT (Figure 6) did not demonstrate any obvious abnormalities; however, autofluorescence photography and mfERG (Figure 7) demonstrated localized variation of autofluorescence intensity along with areas of focally reduced function by mfERG (Figure 7). MfERG ring averages and OCT foveal thickness from the latter patient and from the male patient with the TLR are presented in Table 2.


A tapetal-like fundus reflex in a healthy male: evidence against a role in the pathophysiology of retinal degeneration?

Schatz P, Bregnhøj J, Arvidsson H, Sharon D, Mizrahi-Meissonnier L, Sander B, Grønskov K, Larsen M - Mol. Vis. (2012)

Fundus photography (left panel) and optical coherence tomography (right panel) in a 33-year-old female carrier of X-linked retinitis pigmentosa with a known c.854G>A mutation in RPGR, demonstrating no obvious retinal structural abnormalities and no tapetal-like reflex.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3351408&req=5

f6: Fundus photography (left panel) and optical coherence tomography (right panel) in a 33-year-old female carrier of X-linked retinitis pigmentosa with a known c.854G>A mutation in RPGR, demonstrating no obvious retinal structural abnormalities and no tapetal-like reflex.
Mentions: A 33-year-old female carrier with c.854G>A, a known mutation in RPGR [18], but in whom no TLR was present, was investigated. The fundus and OCT (Figure 6) did not demonstrate any obvious abnormalities; however, autofluorescence photography and mfERG (Figure 7) demonstrated localized variation of autofluorescence intensity along with areas of focally reduced function by mfERG (Figure 7). MfERG ring averages and OCT foveal thickness from the latter patient and from the male patient with the TLR are presented in Table 2.

Bottom Line: Imaging studies and electrophysiological testing was unremarkable, except for a significant increase in full-field ERG amplitudes after prolonged dark adaptation as compared to after standard dark adaptation.Mutation screening was negative.TLR was found for the first time, to the best of our knowledge, in a male subject.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Glostrup Hospital, University of Copenhagen, Denmark. patrik.schatz@med.lu.se

ABSTRACT

Purpose: To report on the retinal function and structure in a 37-year-old male who presented with a tapetal-like reflex (TLR) indistinguishable from that seen in female carriers of X-linked retinitis pigmentosa (XLRP).

Methods: Clinical examination included dark adaptometry, full-field electroretinography (ERG), multifocal ERG, optical coherence tomography, and fundus autofluorescence photography. Molecular genetic testing included screening for known mutations in autosomal dominant, autosomal recessive, and X linked retinitis pigmentosa (RP) genes with a commercially available chip, and sequencing analysis of retinitis pigmentosa GTPase regulator (RPGR)-open reading frame 15 (ORF15).

Results: Fundus examination revealed a bilateral TLR, which is typical of female carriers of XLRP. Imaging studies and electrophysiological testing was unremarkable, except for a significant increase in full-field ERG amplitudes after prolonged dark adaptation as compared to after standard dark adaptation. Mutation screening was negative.

Conclusions: TLR was found for the first time, to the best of our knowledge, in a male subject. There were no definitive signs of retinal degeneration, suggesting that this reflex in itself is not necessarily a precursor of the retinal degeneration that can be seen in female carriers of XLRP.

Show MeSH
Related in: MedlinePlus